N17K (p.Asn17Lys) variant of ABCC4 (O15439)
N17K (p.Asn17Lys) in ABCC4 (O15439) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
N17K (p.Asn17Lys) variant details
- p.Asn17Lys
- Ensembl rs1566613743
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 23.80
- PolyPhen-2 0.15
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)